INTRODUCTION Danon disease is an extremely rare X-linked dominant disorder characterized by progressive cardiomyopathy, muscle weakness, and mild mental retardation. Most cases harbor nonsense, frameshift, or splice-site mutations in LAMP2 that result in lysosome-associated membrane protein-2 (LAMP-2) deficiency and lysosomal defects. The identification of LAMP2 mutations makes it possible to d...

R. Capote, ∗ A. Trkov, M. Sin, M. Herman, A. Daskalakis, and Y. Danon NAPC–Nuclear Data Section, International Atomic Energy Agency, PO Box 100, Vienna A–1400, Austria Jožef Stefan Institute, Jamova cesta 39, Ljubljana SI–1000, Slovenia Nuclear Physics Department, Bucharest University, Bucharest-Magurele RO–077125, Romania National Nuclear Data Center, Brookhaven National Laboratory, Upton, NY ...

Danon disease is an X-linked dominant disorder due to mutations in the LAMP2 gene, presenting with hypertrophic cardiomyopathy, skeletal myopathy and mental retardation. To investigate the effects of LAMP2 gene mutations on protein expression in different tissues, we screened LAMP2 gene mutations and LAMP-2 protein deficiency in the skeletal muscle of 9 unrelated patients with hypertrophic card...

Patients with Danon disease may suffer from severe cardiomyopathy, skeletal muscle dysfunction as well as varying degrees of mental retardation, in which the primary deficiency of lysosomal membrane-associated protein-2 (LAMP2) is considerably associated. Owing to the scarcity of human neurons, the pathological role of LAMP2 deficiency in neural injury of humans remains largely elusive. However...

Rare disorders often represent a challenge for clinicians and require close collaboration of an interdisciplinary team.We present the complex case of a 22-year-old male with Danon disease and late-onset of posttransplant lymphoproliferative disorder after heart transplantation. The critical aspects of his condition were: pre-existing rhabdomyolysis; infiltration of muscle and gut with lymphoma;...

. Arad M, Maron BJ, Gorham JM, et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 2005;352:362–72. . Dougu N, Joho S, Shan L, et al. Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy. Circ J 2009;73:376–80. . Maron BJ, Seidman JG, Seidman CE. Proposal for contemporary screening strategies in families with hyper...

The unified scaling law for earthquakes, proposed by Bak, Christensen, Danon and Scanlon, is shown to hold worldwide, as well as for areas as diverse as Japan, New Zealand, Spain or New Madrid. The scaling functions that account for the rescaled recurrence-time probability densities show a power-law behavior for long times, with a universal exponent about (minus) 2.2. Another decreasing power l...

Skeletal muscle is one of the tissues with the highest rate of autophagosome formation and degradation. A group of congenital myopathies, characterised by lysosomal alteration, are described by massive autophagic build-up and are named Autophagic Vacuolar Myopathies (AVM). Among these disorders, Danon disease (DD) and Pompe (GSD2) are characterised by the presence of large glycogen-fi lled lyso...